All transcript variants in gene RING1

Information The variants shown are described using the NM_002931.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-23_-22insG r.(=) p.(=) g.33176577_33176578insG Copied from the Exome Variant Server RING1_000001 7/9916 2/6624 5/3292
?/? c.11C>T r.(?) p.(Pro4Leu) g.33176610C>T Copied from the Exome Variant Server RING1_000002 1/8440 0/5418 1/3022
?/? c.78+48A>G r.(=) p.(=) g.33176725A>G Copied from the Exome Variant Server RING1_000003 14/8434 13/5416 1/3018
?/? c.175A>T r.(?) p.(Met59Leu) g.33177499A>T Copied from the Exome Variant Server RING1_000004 1/8440 1/5418 0/3022
?/? c.210T>C r.(=) p.(=) g.33177534T>C Copied from the Exome Variant Server RING1_000005 1/8440 1/5418 0/3022
?/? c.232C>G r.(?) p.(Arg78Gly) g.33177556C>G Copied from the Exome Variant Server RING1_000006 1/8440 1/5418 0/3022
?/? c.239+51C>T r.(=) p.(=) g.33177614C>T Copied from the Exome Variant Server RING1_000007 1/8440 0/5418 1/3022
?/? c.240-42T>A r.(=) p.(=) g.33177650T>A Copied from the Exome Variant Server RING1_000008 40/13006 2/8600 38/4406
?/? c.240-15C>T r.(=) p.(=) g.33177677C>T Copied from the Exome Variant Server RING1_000009 7/13006 0/8600 7/4406
?/? c.258C>T r.(=) p.(=) g.33177710C>T Copied from the Exome Variant Server RING1_000010 15/13006 1/8600 14/4406
?/? c.285A>T r.(=) p.(=) g.33177737A>T Copied from the Exome Variant Server RING1_000011 2/13006 2/8600 0/4406
?/? c.330C>T r.(=) p.(=) g.33177782C>T Copied from the Exome Variant Server RING1_000012 127/13006 113/8600 14/4406
?/? c.340C>T r.(?) p.(Arg114Trp) g.33177792C>T Copied from the Exome Variant Server RING1_000013 1/13006 1/8600 0/4406
?/? c.455+13G>A r.(=) p.(=) g.33177920G>A Copied from the Exome Variant Server RING1_000014 3/13006 3/8600 0/4406
?/? c.455+43G>A r.(=) p.(=) g.33177950G>A Copied from the Exome Variant Server RING1_000015 2/13006 0/8600 2/4406
?/? c.456-38C>T r.(=) p.(=) g.33178897C>T Copied from the Exome Variant Server RING1_000016 1/8428 1/5416 0/3012
?/? c.476C>A r.(?) p.(Pro159Gln) g.33178955C>A Copied from the Exome Variant Server RING1_000017 1/8436 0/5414 1/3022
?/? c.515G>A r.(?) p.(Gly172Glu) g.33178994G>A Copied from the Exome Variant Server RING1_000018 1/8432 1/5414 0/3018
?/? c.583G>A r.(?) p.(Ala195Thr) g.33179062G>A Copied from the Exome Variant Server RING1_000019 4/8430 3/5410 1/3020
?/? c.846-49C>G r.(=) p.(=) g.33179457C>G Copied from the Exome Variant Server RING1_000020 2/13006 2/8600 0/4406
?/? c.846-37C>T r.(=) p.(=) g.33179469C>T Copied from the Exome Variant Server RING1_000021 4/13006 3/8600 1/4406
?/? c.846-27C>T r.(=) p.(=) g.33179479C>T Copied from the Exome Variant Server RING1_000022 1/13006 1/8600 0/4406
?/? c.846-11T>A r.(=) p.(=) g.33179495T>A Copied from the Exome Variant Server RING1_000023 1/13006 0/8600 1/4406
?/? c.846-6T>C r.(=) p.(=) g.33179500T>C Copied from the Exome Variant Server RING1_000024 8/13006 8/8600 0/4406
?/? c.885C>T r.(=) p.(=) g.33179545C>T Copied from the Exome Variant Server RING1_000025 1/13006 1/8600 0/4406
?/? c.915C>T r.(=) p.(=) g.33179575C>T Copied from the Exome Variant Server RING1_000026 20/13004 12/8598 8/4406
?/? c.945G>A r.(=) p.(=) g.33179605G>A Copied from the Exome Variant Server RING1_000027 10/13004 0/8598 10/4406
?/? c.966C>T r.(=) p.(=) g.33179626C>T Copied from the Exome Variant Server RING1_000028 112/13002 1/8596 111/4406
?/? c.1000G>A r.(?) p.(Gly334Arg) g.33179660G>A Copied from the Exome Variant Server RING1_000029 7/12968 7/8574 0/4394
?/? c.1017C>T r.(=) p.(=) g.33179677C>T Copied from the Exome Variant Server RING1_000030 1/12978 1/8578 0/4400
?/? c.1029C>T r.(=) p.(=) g.33179689C>T Copied from the Exome Variant Server RING1_000031 2293/12986 2034/8590 259/4396
?/? c.1035T>A r.(=) p.(=) g.33179695T>A Copied from the Exome Variant Server RING1_000032 4/12974 4/8582 0/4392
?/? c.1065C>T r.(=) p.(=) g.33179725C>T Copied from the Exome Variant Server RING1_000033 1/12980 1/8584 0/4396
?/? c.1080G>A r.(=) p.(=) g.33179740G>A Copied from the Exome Variant Server RING1_000034 1/12978 0/8582 1/4396
?/? c.1095C>T r.(=) p.(=) g.33179755C>T Copied from the Exome Variant Server RING1_000035 1/12934 0/8560 1/4374
?/? c.1097C>T r.(?) p.(Ala366Val) g.33179757C>T Copied from the Exome Variant Server RING1_000037 1/12930 0/8562 1/4368
?/? c.1119+31G>A r.(=) p.(=) g.33179810G>A Copied from the Exome Variant Server RING1_000039 14/12866 0/8528 14/4338
?/? c.1119+31_1119+32del r.(=) p.(=) g.33179810_33179811del Copied from the Exome Variant Server RING1_000041 5/12312 3/8162 2/4150
?/? c.1120-30_1120-29insC r.(=) p.(=) g.33180045_33180046insC Copied from the Exome Variant Server RING1_000044 873/9750 594/6426 279/3324
?/? c.1120-12del r.(=) p.(=) g.33180063del Copied from the Exome Variant Server RING1_000038 46/9520 35/6250 11/3270
?/? c.1120-12dup r.(=) p.(=) g.33180063dup Copied from the Exome Variant Server RING1_000036 11/9520 0/6250 11/3270
?/? c.1134G>A r.(=) p.(=) g.33180089G>A Copied from the Exome Variant Server RING1_000040 1/8430 1/5414 0/3016
?/? c.1210G>A r.(?) p.(Asp404Asn) g.33180165G>A Copied from the Exome Variant Server RING1_000042 1/8430 1/5414 0/3016
?/? c.*29G>A r.(=) p.(=) g.33180205G>A Copied from the Exome Variant Server RING1_000043 128/8422 16/5406 112/3016
?/? c.*29_*30insA r.(=) p.(=) g.33180205_33180206insA Copied from the Exome Variant Server RING1_000045 23/9506 3/6216 20/3290
?/? c.*33A>C r.(=) p.(=) g.33180209A>C Copied from the Exome Variant Server RING1_000046 596/8404 122/5398 474/3006
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